Hi everyone,
I have not been diagnosed with myotonia but am wondering if it's a possibility. I have not received much support from doctors so I'm nervous to go back and suggest it, so any advice is very much appreciated.

I'll try to keep my story as short as possible:
About a year and a half ago I started noticing that my toes on my left foot would twitch occasionally (mostly at night when I was tired). It wasn't painful or extremely apparent, but it just didn't seem right to me. I took videos of it to show people because it only happened sometimes. It slowly progressed over a few months and got really bad after about 6 months. My toes curled under, my foot cramped, and my whole leg cramped. It was extremely painful, upsetting, and exhausting. As far as I knew at the time it just randomly happened with nothing triggering it. My foot would spasm/cramp so badly that my foot would turn purple and go numb. My veins started popping out on top of my foot and haven't gone away since.

I went to the doctor and they weren't very concerned (despite this being constant) and prescribed me muscle relaxants which didn't help. I was finally seen by a neurologist who was very concerned but didn't have much knowledge of movement disorders. He ordered a full brain/spine MRI which was normal other than a herniated disc between T10-T11 (asymptomatic as far as I know). He also ordered an EEG because he was concerned I was having focal seizures, but the results were normal. The neurologist was really unsure as to what I had so he sent me another neurologist- the head of a movement disorders clinic at a hospital. I was very excited by the possibility of finally figuring out what was wrong with me.

It was a long wait to see the second neurologist and during the wait I learned more about what my issue was. As far as I can tell it was so bad in the beginning because it freaked me out and caused me to unconsciously tense up. I also discovered that what triggers it is flexing my toes downward (voluntarily- like when walking). I explained everything to the second neurologist and his first comment was "well why don't you just stop flexing your toes?" The whole appointment was just extremely upsetting. He decided I might have paroxysmal kinesigenic dyskinesia (PKD) and prescribed tegretol. I left the appointment 100% sure that it was pointless as the doctor didn't care and that the tegretol wouldn't help. Oddly enough, the tegretol made a huge improvement for me. The cramping still occured but at a completely tolerable level. However, when looking up the symptoms for PKD I didn't think it sounded like me at all.

I went back for a follow up with the second neurologist and he was just as bad the second time around. I asked about any further testing that could be done and he basically said it would all be pointless and since my symptoms had improved I should leave it at that. Just recently I read the report from this appointment he sent my family doctor. He mentions doing an EMG would probably be pointless but could look for myotonia. I had never heard of myotonia and he had never mentioned it to me, so I looked it up. I don't feel like the symptoms 100% match what I have but I feel like it's the closest of all the possibilities.

I've since weaned myself off of the tegretol (I was on a very low dose to begin with) and I have fairly decent control of it now. It still happens and I can demonstrate it, but I am much better at avoiding movements that flex my toes downward. I also have some issues with my legs shaking when I walk down stairs. I can demonstrate this if I'm sitting in a chair, push weight onto my toes (so my heel comes off the ground) and then try to relax my heels back to the ground. The movement back down is shaky and extremely jumpy. I've also had a history of leg problems since I was about 9. I would get horrible muscle cramps, especially after a lot of exercise, so painful that I couldn't walk. My family doctor wrote it off as "growing pains" but I've never grown out of them. It still happens, especially after a long day on my feet- the only difference it that now I can still walk despite it.

I can post videos if that would be helpful as it's hard to explain. Any advice is much appreciated. Thanks.

Type of Myotonia: Unknown

Country: US

Dani, what you describe doesn't sound like typical myotonia congenita, but it's certainly easy enough to test for. Were the doctors you saw affiliated with a Muscular Dystrophy Association (MDA) clinic? If not, then I would suggest going through them first. In general their doctors seem to know more about myotonia and related disorders. The clinics are usually in university medical centers.

The first step in diagnosing myotonia is usually getting an EMG. If that shows myotonic dishcarges (which means the muscle is overfiring when it should be relaxing) then they usually order a DNA myotonic profile which will tell you which type you have.

Have you looked at conditions like neuromyotonia or cramp fasciculation syndrome? Those are possibilities. It would be unusual for you to have myotonia congenita or paramyotonia and only have symptoms in your legs and feet, but some people don't fit the normal pattern.

Since you have a great deal of pain, you might want to make an appointment with a physiatrist rather than a neurologist. They can also do EMGs and are much better at pain management.

Let us know what you find out -

Jan

Type of Myotonia: Thomsen's

Country: US

Thank you for the reply.

That seems to be the biggest problem for me, my symptoms don't totally fit any condition. I just briefly looked up neuromyotonia and CFS. I don't think I have neuromyotonia- I've read that it continues while you sleep? My twitching/cramping all stops when I'm asleep. CFS seems much closer- one of the symptoms listed is hyperreflexia which I have as well.

I guess I need an EMG, I'm just very reluctant to go get one as I'm worried it won't show anything.

Type of Myotonia: Unknown

Country: US

Hi, Dani
You did not mention your reference source, so may I recommend the
Washington University of St. Louis. If you Google the term "neuromuscular"
the second entry will be WUSTL.

The EMG test will show most but not all myotonias, mine was one that did not.

Type of Myotonia: SCN4a

Country: US